A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2624



Internal ID15200501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:18527911..18562908hg38UCSC Ensembl
Outerchr2:18709177..18744174hg19UCSC Ensembl
Outerchr2:18572658..18607655hg18UCSC Ensembl
Outerchr2:18630805..18665802hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg384752
hg194752
hg184752
hg174752
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4401
SamplesNA12878
Known GenesNT5C1B, NT5C1B-RDH14, RDH14
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2624
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer